Global Variome shared LOVD

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Phenotype #0000236373 Individual ID 00311117 Associated disease MDDG Phenotype details onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.72; muscle weakness p roximal upper limb and lower limb, distal lower limb, facial; distal lower limb hypertrophy, facial atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 7646 U/L; muscle biopsy myopathic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; hypertrophic appearance of lower leg muscles; EMG myopathic Diagnosis/Initial dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein reduced α-DG glycosylation Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-18 13:35:42 +02:00 (CEST) Date last edited N/A

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